ClinVar Miner

List of variants reported as likely benign for Chediak-Higashi syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 100
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HGVS dbSNP
NM_000081.4(LYST):c.10758C>T (p.Cys3586=)
NM_000081.4(LYST):c.10965G>A (p.Ala3655=)
NM_000081.4(LYST):c.111G>A (p.Thr37=)
NM_000081.4(LYST):c.11268-6_11268-5del
NM_000081.4(LYST):c.11382C>T (p.Phe3794=)
NM_000081.4(LYST):c.1875A>G (p.Gly625=)
NM_000081.4(LYST):c.2040C>T (p.Ser680=)
NM_000081.4(LYST):c.2148C>T (p.Cys716=)
NM_000081.4(LYST):c.2363+7A>T
NM_000081.4(LYST):c.2757G>A (p.Ser919=)
NM_000081.4(LYST):c.3025C>A (p.Gln1009Lys)
NM_000081.4(LYST):c.3702C>A (p.Thr1234=)
NM_000081.4(LYST):c.3876A>G (p.Val1292=)
NM_000081.4(LYST):c.4006+8G>A
NM_000081.4(LYST):c.4065A>G (p.Ser1355=)
NM_000081.4(LYST):c.4455T>C (p.His1485=)
NM_000081.4(LYST):c.4983G>A (p.Leu1661=)
NM_000081.4(LYST):c.5001G>A (p.Leu1667=)
NM_000081.4(LYST):c.5013T>C (p.Leu1671=)
NM_000081.4(LYST):c.5023+14G>A
NM_000081.4(LYST):c.5058G>A (p.Leu1686=)
NM_000081.4(LYST):c.5418C>T (p.His1806=)
NM_000081.4(LYST):c.588T>C (p.Pro196=)
NM_000081.4(LYST):c.5997C>T (p.Val1999=)
NM_000081.4(LYST):c.603C>T (p.Pro201=)
NM_000081.4(LYST):c.6122-13del rs201404906
NM_000081.4(LYST):c.6225A>G (p.Pro2075=)
NM_000081.4(LYST):c.6432A>G (p.Ser2144=)
NM_000081.4(LYST):c.6570C>T (p.Val2190=)
NM_000081.4(LYST):c.66A>C (p.Ala22=)
NM_000081.4(LYST):c.7137A>C (p.Leu2379=) rs61738992
NM_000081.4(LYST):c.7229+3A>G
NM_000081.4(LYST):c.7797C>A (p.Pro2599=)
NM_000081.4(LYST):c.7911G>A (p.Thr2637=)
NM_000081.4(LYST):c.8205T>G (p.Ser2735=)
NM_000081.4(LYST):c.8268C>T (p.His2756=)
NM_000081.4(LYST):c.9681C>G (p.Pro3227=)
NM_001301365.1(LYST):c.-7-14T>C
NM_001301365.1(LYST):c.-98+16250G>C
NM_001301365.1(LYST):c.10221C>T (p.Tyr3407=)
NM_001301365.1(LYST):c.10477T>C (p.Phe3493Leu)
NM_001301365.1(LYST):c.10800+4G>T rs41308172
NM_001301365.1(LYST):c.10941-7C>A rs72761794
NM_001301365.1(LYST):c.11086G>A (p.Val3696Ile)
NM_001301365.1(LYST):c.11268-5del rs36014994
NM_001301365.1(LYST):c.1384C>T (p.Pro462Ser)
NM_001301365.1(LYST):c.1494A>G (p.Arg498=)
NM_001301365.1(LYST):c.1664A>C (p.His555Pro)
NM_001301365.1(LYST):c.1686G>C (p.Gln562His) rs77091385
NM_001301365.1(LYST):c.196T>C (p.Leu66=)
NM_001301365.1(LYST):c.2310T>C (p.Pro770=)
NM_001301365.1(LYST):c.2313G>A (p.Gln771=)
NM_001301365.1(LYST):c.2355T>C (p.Leu785=) rs3768066
NM_001301365.1(LYST):c.2363+10dup
NM_001301365.1(LYST):c.2724C>T (p.Cys908=)
NM_001301365.1(LYST):c.2754G>A (p.Glu918=)
NM_001301365.1(LYST):c.281C>T (p.Thr94Ile) rs777389303
NM_001301365.1(LYST):c.2946T>C (p.Tyr982=)
NM_001301365.1(LYST):c.3030A>G (p.Gly1010=)
NM_001301365.1(LYST):c.3217A>G (p.Ile1073Val)
NM_001301365.1(LYST):c.3324C>T (p.Ala1108=)
NM_001301365.1(LYST):c.3507C>T (p.Leu1169=)
NM_001301365.1(LYST):c.3683A>G (p.Asn1228Ser)
NM_001301365.1(LYST):c.368A>G (p.His123Arg) rs3768067
NM_001301365.1(LYST):c.3898A>G (p.Ile1300Val)
NM_001301365.1(LYST):c.4337G>A (p.Arg1446Gln)
NM_001301365.1(LYST):c.4377G>A (p.Pro1459=)
NM_001301365.1(LYST):c.4392C>T (p.Asn1464=) rs11583387
NM_001301365.1(LYST):c.4416T>C (p.Gly1472=)
NM_001301365.1(LYST):c.4566A>C (p.Ala1522=)
NM_001301365.1(LYST):c.4637C>T (p.Ala1546Val)
NM_001301365.1(LYST):c.5518T>G (p.Ser1840Ala) rs115330112
NM_001301365.1(LYST):c.5635-4A>G
NM_001301365.1(LYST):c.5883A>G (p.Gln1961=)
NM_001301365.1(LYST):c.5922+10A>G
NM_001301365.1(LYST):c.597C>G (p.Asp199Glu)
NM_001301365.1(LYST):c.6264C>T (p.Ser2088=)
NM_001301365.1(LYST):c.6279A>G (p.Pro2093=)
NM_001301365.1(LYST):c.6291C>T (p.Ala2097=)
NM_001301365.1(LYST):c.6292G>A (p.Ala2098Thr)
NM_001301365.1(LYST):c.6388G>A (p.Asp2130Asn) rs148371004
NM_001301365.1(LYST):c.6455G>A (p.Ser2152Asn)
NM_001301365.1(LYST):c.6482A>C (p.Glu2161Ala) rs147756847
NM_001301365.1(LYST):c.6632C>G (p.Pro2211Arg)
NM_001301365.1(LYST):c.6710A>C (p.Gln2237Pro) rs138443479
NM_001301365.1(LYST):c.7368T>C (p.Asn2456=) rs199631995
NM_001301365.1(LYST):c.7506A>G (p.Gln2502=) rs140434436
NM_001301365.1(LYST):c.777T>C (p.His259=)
NM_001301365.1(LYST):c.7806A>G (p.Gln2602=)
NM_001301365.1(LYST):c.7870C>T (p.Arg2624Trp) rs150306354
NM_001301365.1(LYST):c.7920G>A (p.Ala2640=)
NM_001301365.1(LYST):c.8368A>C (p.Lys2790Gln)
NM_001301365.1(LYST):c.8487C>T (p.Ile2829=)
NM_001301365.1(LYST):c.8497G>A (p.Ala2833Thr)
NM_001301365.1(LYST):c.8607A>G (p.Gln2869=)
NM_001301365.1(LYST):c.8624G>A (p.Arg2875His)
NM_001301365.1(LYST):c.8913T>G (p.Asn2971Lys)
NM_001301365.1(LYST):c.9162+11G>A
NM_001301365.1(LYST):c.9520G>A (p.Val3174Ile) rs199672291
NM_001301365.1(LYST):c.957G>A (p.Pro319=)

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